Variant report

Variant	nsv965364
Chromosome Location	chr3:146570227-146584347
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:146543043..146545819-chr3:146575097..146577219,2	MCF-7	breast:
2	chr3:146568702..146571051-chr3:146573084..146575725,2	K562	blood:
3	chr3:146570466..146572566-chr3:146575792..146578256,3	K562	blood:
4	chr3:146568702..146571051-chr3:146573084..146575725,2	K562	blood:
5	chr3:146570466..146572566-chr3:146575792..146578256,3	K562	blood:

Extended variants
information (count: 435 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:435 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144664688	chr3:146572266-146572267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs532245575	chr3:146572274-146572275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs372378949	chr3:146572319-146572320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs552056895	chr3:146572321-146572322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs551368991	chr3:146572408-146572409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs185741898	chr3:146572432-146572433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs189349121	chr3:146572469-146572470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs370092636	chr3:146572505-146572506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs548493859	chr3:146572535-146572536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs7630260	chr3:146572562-146572563	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs116209515	chr3:146572582-146572583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs62273051	chr3:146572643-146572644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs547777189	chr3:146572685-146572686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs375141548	chr3:146572721-146572722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs570821066	chr3:146572725-146572726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs79270469	chr3:146572735-146572736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556268899	chr3:146572737-146572738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs569902001	chr3:146572746-146572747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs117541486	chr3:146572760-146572761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs1521588	chr3:146572777-146572778	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs369215397	chr3:146572859-146572860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs7349522	chr3:146572888-146572889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181605084	chr3:146572907-146572908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs4681340	chr3:146572919-146572920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs576790836	chr3:146572965-146572966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs545867310	chr3:146572979-146572980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs7642381	chr3:146572988-146572989	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs11917944	chr3:146572991-146572992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs7642386	chr3:146572999-146573000	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs542046350	chr3:146573010-146573011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs561920602	chr3:146573033-146573034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs185930677	chr3:146573100-146573101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs190598391	chr3:146573203-146573204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs534931029	chr3:146573245-146573246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs570805758	chr3:146573271-146573272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs533207139	chr3:146573297-146573298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs549856108	chr3:146573304-146573305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs569864987	chr3:146573328-146573329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs75242792	chr3:146573330-146573331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200438808	chr3:146573331-146573332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs535607527	chr3:146573352-146573353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs553571572	chr3:146573364-146573365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs201785152	chr3:146573365-146573366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs549569087	chr3:146573436-146573437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs565791477	chr3:146573441-146573442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs145361624	chr3:146573445-146573446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs566209070	chr3:146573486-146573487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs181593663	chr3:146573502-146573503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs149201543	chr3:146573574-146573575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs569573991	chr3:146573655-146573656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Autism	18923514	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Autism	21956041	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:146572200-146572400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:146572400-146572600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr3:146572600-146580400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr3:146573600-146574000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr3:146580400-146580600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr3:146580600-146581000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr3:146580600-146583600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr3:146581000-146581200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr3:146581200-146582400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr3:146582200-146583400	Enhancers	Fetal Heart	heart
11	chr3:146582200-146583600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr3:146582400-146583200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr3:146582600-146583400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr3:146583000-146583400	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr3:146583200-146583600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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